Article
Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.
American journal of medical genetics - 3 Jul 1995
Lindsay E A, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati R S, Shprintzen R J, Baldini A
Abstract excerpt
Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital heart disease. Due to the variability of phenotype, the evaluation of the incidence of deletions has been hampered by uncer...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Cleft Palate
- Face
- Female
- Heart Defects, Congenital
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Phenotype
- Syndrome